"Illumina Laboratory Services, Illumina"[submitter] AND "LOC126806423" - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 894610	NM_001267550.2(TTN):c.68285T>C (p.Leu22762Pro)	LOC126806423, TTN +1 more (L13822P +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +4 more	GUncertain significance
Select item 47263	NM_001267550.2(TTN):c.68217T>C (p.His22739=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign
Select item 165874	NM_001267550.2(TTN):c.68208T>A (p.Val22736=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 191911	NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys)	LOC126806423, TTN +1 more (E20153K +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +7 more	GConflicting classifications of pathogenicity
Select item 178197	NM_001267550.2(TTN):c.68082C>T (p.Cys22694=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Tibial muscular dystrophy +8 more	GConflicting classifications of pathogenicity
Select item 47260	NM_001267550.2(TTN):c.68079G>A (p.Thr22693=)	TTN-AS1, LOC126806423 +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +8 more	GBenign/Likely benign
Select item 47258	NM_001267550.2(TTN):c.67960G>C (p.Asp22654His)	LOC126806423, TTN +1 more (D22654H +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 262330	NM_001267550.2(TTN):c.67959T>C (p.Phe22653=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +7 more	GConflicting classifications of pathogenicity
Select item 332798	NM_001267550.2(TTN):c.67856G>A (p.Gly22619Glu)	LOC126806423, TTN +1 more (G20051E +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +4 more	GUncertain significance
Select item 178198	NM_001267550.2(TTN):c.67833C>T (p.Tyr22611=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 238829	NM_001267550.2(TTN):c.67809G>A (p.Ala22603=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Early-onset myopathy with fatal cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 894274	NM_001267550.2(TTN):c.67643C>T (p.Pro22548Leu)	LOC126806423, TTN +1 more (P13608L +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +4 more	GUncertain significance
Select item 47255	NM_001267550.2(TTN):c.67635T>C (p.Val22545=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more	GBenign/Likely benign
Select item 47253	NM_001267550.2(TTN):c.67542T>G (p.Thr22514=)	TTN-AS1, LOC126806423 +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign